FBN1 P1148A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

FBN1 P1148A

(FBN1 Pro1148Ala)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr15:48779530: 0.4% (44/10758) in EVS
  • C @ chr15:46566821: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 0.4% (44/10758)

Publications
 

Genomes
 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr15:48779530

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr15:46566822

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr15:46566822

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr15:46566822

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr15:46566822

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr15:46566822

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr15:46566822

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr15:46566822

 

Other external references
 

    dbSNP
  • rs140598
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the FBN1 gene
    Ectopia Lentis, Isolated
    FBN1-Related Weill-Marchesani Syndrome
    Marfan Syndrome
    MASS Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBN1
    Web search results (53 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    The authors suggested that the FBN1 gene is one of the genes that determine ... In further studies of the P1148A mutation, Schrijver et al. (1997) screened 416 ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+134797
  • Defective secretion of recombinant fragments of fibrillin-1 ...
    Mutations in the fibrillin-1 gene (FBN1) cause Marfan syndrome and related connective ... The positions of the C1117Y, C1129Y, G1127S and P1148A substitutions are indicated. ...
    hmg.oxfordjournals.org/cgi/content/full/12/7/727
  • Fibrillin-1 (FBN1) Mutations in Patients With Thoracic Aortic ...
    We have identified FBN1 alterations in two such individuals. ... It is interesting to note that a FBN1 polymorphism (P1148A) also altering a proline in the same carboxyl ...
    circ.ahajournals.org/cgi/content/full/94/11/2708
  • Mendelian Inheritance in Man Document Reader
    This suggested that P1148A defines a predisposing allele that is subject to ... FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+182212
  • Journal of Perinatology - Abstract of article: A novel ...
    JPER is a multi-disciplinary journal that promotes the health of the preterm infant. ... by mutations in the gene encoding fibrillin-1 (FBN1). Here, we report a newborn with ...
    www.nature.com/jp/journal/v28/n4/abs/7211915a.html
  • The molecular genetics of Marfan syndrome and related disorders
    observed in fbn1 and fbn2 gene targeting experiments in mice; ... The fibrillin-1 gene FBN1 spans about 235 kb of genomic DNA on chromosome 15q21. ...
    jmg.bmj.com/content/43/10/769.full.pdf+html
  • Shprintzen-Goldberg Syndrome -- GeneReviews -- NCBI Bookshelf
    FBN1. Mutations in the FBN1 gene have been reported in three individuals with a clinical ... the structural consequences of a P1148A substitution in fibrillin-1. Protein Eng. ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sgs
  • In frame fibrillin-1 gene deletion in autosomal dominant ...
    Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex ... Scheuner M, Graham JM Jr, Godfrey M. P1148A in fibrillin-1 is not a mutation ...
    jmg.bmj.com/content/40/1/34.full
  • 105402831999121719991217200411170950-382X3411999Oct ...
    FBN1 mutations have been reported in a spectrum of diseases related to MFS, with no clear evidence for a ... (P1424A) and one FBN1 variant (P1148A) classified as a polymorphism ...
    www.nlm.nih.gov/databases/dtd/medsamp2005.xml
  • Molecular microbiology.
    FBN1 mutations have been reported in a spectrum of diseases related to MFS, with ... (P1424A) and one FBN1 variant (P1148A) classified as a polymorphism ...
    www.nlm.nih.gov/databases/dtd/medsamp2006.xml

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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